Incidental Mutation 'R8698:AW146154'
ID 668847
Institutional Source Beutler Lab
Gene Symbol AW146154
Ensembl Gene ENSMUSG00000074166
Gene Name expressed sequence AW146154
Synonyms
MMRRC Submission 068552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 41128298-41149314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41129934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 394 (R394L)
Ref Sequence ENSEMBL: ENSMUSP00000096109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000098509]
AlphaFold Q3TPQ7
Predicted Effect probably benign
Transcript: ENSMUST00000094532
Predicted Effect probably benign
Transcript: ENSMUST00000098509
AA Change: R394L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096109
Gene: ENSMUSG00000074166
AA Change: R394L

DomainStartEndE-ValueType
KRAB 4 66 9.86e-14 SMART
ZnF_C2H2 75 97 9.08e1 SMART
ZnF_C2H2 131 153 7.78e-3 SMART
ZnF_C2H2 159 181 4.72e-2 SMART
ZnF_C2H2 187 209 3.63e-3 SMART
ZnF_C2H2 215 237 8.47e-4 SMART
ZnF_C2H2 243 265 4.24e-4 SMART
ZnF_C2H2 271 293 5.81e-2 SMART
ZnF_C2H2 299 321 2.61e-4 SMART
ZnF_C2H2 327 349 2.12e-4 SMART
ZnF_C2H2 355 377 1.6e-4 SMART
ZnF_C2H2 383 405 8.47e-4 SMART
ZnF_C2H2 411 433 6.88e-4 SMART
ZnF_C2H2 439 461 1.6e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,247,250 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,714 (GRCm39) N1384S probably benign Het
Adgre1 T C 17: 57,709,003 (GRCm39) S65P probably benign Het
Adgrl4 G T 3: 151,203,512 (GRCm39) C124F probably damaging Het
Aldh1b1 G A 4: 45,802,942 (GRCm39) G160D probably damaging Het
Alpi T G 1: 87,028,208 (GRCm39) D205A probably damaging Het
Bcl10 G A 3: 145,639,022 (GRCm39) M221I probably benign Het
Brpf3 G A 17: 29,037,436 (GRCm39) R768H probably damaging Het
Cad G T 5: 31,234,819 (GRCm39) R2116L probably benign Het
Cand2 G T 6: 115,763,852 (GRCm39) R258L probably damaging Het
Car4 A T 11: 84,855,009 (GRCm39) N119I probably benign Het
Carmil1 C T 13: 24,220,229 (GRCm39) G1165D probably damaging Het
Ccdc66 T C 14: 27,212,647 (GRCm39) T403A probably benign Het
Cdon T G 9: 35,398,269 (GRCm39) probably null Het
Cemip T C 7: 83,607,790 (GRCm39) I739V probably damaging Het
Cep85l A G 10: 53,234,201 (GRCm39) I59T probably damaging Het
Clec4f A T 6: 83,630,267 (GRCm39) V97D probably benign Het
Cnot6l A G 5: 96,225,149 (GRCm39) C515R probably damaging Het
Cntnap2 G A 6: 47,026,156 (GRCm39) G935D probably damaging Het
Cntrl A G 2: 35,023,974 (GRCm39) H553R probably damaging Het
Cops3 A G 11: 59,708,886 (GRCm39) S423P probably damaging Het
Cox15 C T 19: 43,739,948 (GRCm39) R39H probably benign Het
Ctnna2 A G 6: 77,630,100 (GRCm39) V131A probably benign Het
Dcst2 T A 3: 89,276,044 (GRCm39) F392I probably benign Het
Decr1 A G 4: 15,922,483 (GRCm39) probably null Het
Dennd3 A C 15: 73,394,154 (GRCm39) T60P possibly damaging Het
Dipk1a A T 5: 108,057,776 (GRCm39) F261I probably damaging Het
Dmxl2 T C 9: 54,281,953 (GRCm39) N2859S probably benign Het
Dnah12 A T 14: 26,428,418 (GRCm39) I280F probably benign Het
Dnah8 A C 17: 31,094,009 (GRCm39) D4701A probably damaging Het
Dyrk1a C A 16: 94,487,414 (GRCm39) H541Q possibly damaging Het
Eml4 T C 17: 83,785,345 (GRCm39) S906P probably benign Het
Fam169a G T 13: 97,243,578 (GRCm39) V203F probably damaging Het
Fmn1 C T 2: 113,260,152 (GRCm39) L682F unknown Het
Gli2 T C 1: 118,769,887 (GRCm39) Y555C probably damaging Het
Gm3278 A G 14: 16,081,505 (GRCm39) Y130C possibly damaging Het
Gm8237 T A 14: 5,863,554 (GRCm38) Y37F probably damaging Het
Golga4 T G 9: 118,385,029 (GRCm39) L717R probably damaging Het
Gtpbp4 C T 13: 9,024,249 (GRCm39) R568H probably benign Het
Il1f10 A G 2: 24,183,197 (GRCm39) N47S probably damaging Het
Itga6 A G 2: 71,673,618 (GRCm39) H884R probably benign Het
Kdm1a T C 4: 136,286,518 (GRCm39) K482R probably benign Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 T A 2: 69,278,583 (GRCm39) R3923S probably benign Het
Lrp2 C T 2: 69,288,767 (GRCm39) V3700M probably benign Het
Lrrk2 A G 15: 91,636,400 (GRCm39) D1458G probably benign Het
Mapre2 T A 18: 24,011,090 (GRCm39) S233T probably benign Het
Mki67 T C 7: 135,296,937 (GRCm39) D2699G possibly damaging Het
Mthfr T A 4: 148,128,947 (GRCm39) Y214* probably null Het
Ncoa6 A T 2: 155,257,041 (GRCm39) M834K possibly damaging Het
Neurl2 C T 2: 164,675,054 (GRCm39) D103N probably benign Het
Niban3 T A 8: 72,060,159 (GRCm39) I93N unknown Het
Or1j15 T C 2: 36,458,915 (GRCm39) Y102H possibly damaging Het
Or2ag16 A T 7: 106,352,571 (GRCm39) V8E probably benign Het
Or2b7 G A 13: 21,739,890 (GRCm39) L101F probably damaging Het
P2ry14 A G 3: 59,022,596 (GRCm39) V288A possibly damaging Het
Pde6b G T 5: 108,576,105 (GRCm39) S730I possibly damaging Het
Pdpk1 A T 17: 24,298,542 (GRCm39) V496D probably damaging Het
Plekho2 A T 9: 65,463,554 (GRCm39) L432M probably damaging Het
Ppa2 T C 3: 133,082,362 (GRCm39) L151P unknown Het
Ppp2r3c G A 12: 55,328,499 (GRCm39) T422I probably benign Het
Prelid3a T C 18: 67,610,122 (GRCm39) S151P probably damaging Het
Rad21l G A 2: 151,487,373 (GRCm39) P537L probably damaging Het
Sacs T A 14: 61,450,802 (GRCm39) S4283T probably benign Het
Samd9l A T 6: 3,373,843 (GRCm39) D1139E probably benign Het
Scn9a G T 2: 66,366,628 (GRCm39) H718Q probably benign Het
Slc1a3 A T 15: 8,668,636 (GRCm39) I443N probably damaging Het
Slc22a6 A G 19: 8,600,889 (GRCm39) M361V probably benign Het
Slc8a2 A G 7: 15,891,132 (GRCm39) Y724C probably damaging Het
Slf1 A T 13: 77,197,284 (GRCm39) S777T possibly damaging Het
Sltm T C 9: 70,494,352 (GRCm39) S901P probably benign Het
Smc1b A T 15: 84,997,047 (GRCm39) H524Q probably benign Het
Spast T C 17: 74,666,341 (GRCm39) S225P probably benign Het
Srsf12 C T 4: 33,231,246 (GRCm39) R252W probably damaging Het
Syne1 A G 10: 5,179,229 (GRCm39) L4415P probably damaging Het
Tmem117 A T 15: 94,535,990 (GRCm39) Y8F probably benign Het
Tmem241 T C 18: 12,197,288 (GRCm39) D180G possibly damaging Het
Tomm40 C T 7: 19,444,890 (GRCm39) V164I probably benign Het
Ttc41 T C 10: 86,548,841 (GRCm39) Y12H probably benign Het
Twnk T C 19: 44,996,299 (GRCm39) V244A probably benign Het
Ugt1a8 T C 1: 88,015,952 (GRCm39) S122P probably damaging Het
Vmn1r78 A G 7: 11,886,539 (GRCm39) K50R probably benign Het
Vmn2r10 A G 5: 109,151,390 (GRCm39) F75L probably benign Het
Wbp4 G T 14: 79,707,573 (GRCm39) Y179* probably null Het
Zfp106 A G 2: 120,354,600 (GRCm39) probably null Het
Zfp974 A T 7: 27,610,361 (GRCm39) C455S possibly damaging Het
Other mutations in AW146154
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:AW146154 APN 7 41,129,883 (GRCm39) missense probably damaging 1.00
R1351:AW146154 UTSW 7 41,129,878 (GRCm39) missense probably damaging 1.00
R3763:AW146154 UTSW 7 41,129,794 (GRCm39) missense probably damaging 1.00
R4829:AW146154 UTSW 7 41,130,057 (GRCm39) missense possibly damaging 0.62
R4835:AW146154 UTSW 7 41,129,892 (GRCm39) missense probably damaging 1.00
R5326:AW146154 UTSW 7 41,130,801 (GRCm39) missense probably benign 0.00
R5542:AW146154 UTSW 7 41,130,801 (GRCm39) missense probably benign 0.00
R5976:AW146154 UTSW 7 41,129,721 (GRCm39) missense probably damaging 0.99
R6252:AW146154 UTSW 7 41,130,811 (GRCm39) missense probably benign 0.10
R7006:AW146154 UTSW 7 41,130,648 (GRCm39) missense possibly damaging 0.50
R7053:AW146154 UTSW 7 41,131,988 (GRCm39) critical splice donor site probably null
R7096:AW146154 UTSW 7 41,130,867 (GRCm39) missense probably benign 0.32
R7649:AW146154 UTSW 7 41,130,156 (GRCm39) missense probably benign 0.13
R8069:AW146154 UTSW 7 41,129,935 (GRCm39) missense probably benign 0.01
R8085:AW146154 UTSW 7 41,130,622 (GRCm39) missense probably damaging 1.00
R8085:AW146154 UTSW 7 41,130,621 (GRCm39) missense possibly damaging 0.61
R8266:AW146154 UTSW 7 41,130,592 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAAAACTACTGTGATATGCAAAGGC -3'
(R):5'- CTTTACCCGGCACAATAGTCTC -3'

Sequencing Primer
(F):5'- TCTCTGCAGTATGAATTGGCTC -3'
(R):5'- CGGCACAATAGTCTCCAAATAC -3'
Posted On 2021-04-30